Molecular Screening of SCN1A‐Related Seizures in Children With Febrile Seizures: Diagnostic Yield and Variant Distribution

ABSTRACT Objective SCN1A‐related seizures first present as febrile seizures (FS). Definitive features emerge later, making early diagnosis challenging. We evaluated the diagnostic yield and clinical characteristics of pathogenic SCN1A variants in FS, and analyzed the effect of variant characteristic...

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Автори:	Jia Wang, Yang‐Yang Wang, Lin‐Yan Hu, Xiu‐Yu Shi, Wen He, Dan Sun, Baoguang Li, Xiaoming Liu, Sanqing Xu, Lijun Du, Chunhui Tang, Li‐Ping Zou
Формат:	Artigo
Мова:	Inglês
Опубліковано:	Wiley 2025-08-01
Серія:	Annals of Clinical and Translational Neurology
Предмети:	febrile seizures genotype–phenotype association molecular screening precision medicine SCN1A‐related seizures
Онлайн доступ:	https://doi.org/10.1002/acn3.70114
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